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Sinonasal Teratocarcinosarcoma- A Rare Tumour not so Rarely Misdiagnosed

Sinonasal teratocarcinosarcoma (STCS) is a rare, morphologically heterogeneous and highly aggressive tumour of ambiguous origin. It is characterized by the presence of benign and malignant epithelial, mesenchymal and neuroectodermal components. Because of their rarity and heterogeneity, these lesions are often misdiagnosed, leading to management difficulties. Adequate sampling with a high index...

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DiGeorge Syndrome: a not so rare disease

INTRODUCTION The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known a...

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Kartagener syndrome: a not so rare phenomenon.

BACKGROUND Kartagener Syndrome is characterized by ciliary dyskinesia and is inherited in autosomal recessive manner. It occurs in 1:20,000-30,000 live births in general population. Its prevalence varies from region to region. METHODS This case series describes four patients of Kartagener Syndrome who were diagnosed in the departments of medicine and pulmonology between year 2009 and 2013. ...

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Mendelian genetics of rare--and not so rare--cancers.

Mendelian genetics forms the basis for gene-informed risk assessment and management for the patient and family, and should be at the very foundation of 21st century personalization of healthcare. Yet this is an underutilized commodity. Identification and characterization of germline mutations in the RET proto-oncogene, encoding a receptor tyrosine kinase, as causing >90% of multiple endocrine n...

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Rare cancers are not so rare: the rare cancer burden in Europe.

PURPOSE Epidemiologic information on rare cancers is scarce. The project Surveillance of Rare Cancers in Europe (RARECARE) provides estimates of the incidence, prevalence and survival of rare cancers in Europe based on a new and comprehensive list of these diseases. MATERIALS AND METHODS RARECARE analysed population-based cancer registry (CR) data on European patients diagnosed from 1988 to 2...

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ژورنال

عنوان ژورنال: Anaesthesia

سال: 2002

ISSN: 0003-2409

DOI: 10.1046/j.1365-2044.2002.262632.x